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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:selective pituitary thyroid hormone resistance
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Accession:DOID:0111374 term browser browse the term
Definition:A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: PRTH;   familial hyperthyroidism due to inappropriate thyrotropin secretion;   pituitary resistance to thyroid hormone;   selective pituitary resistance to thyroid hormone
 primary_id: MESH:C564154
 alt_id: OMIM:145650
 xref: ORDO:165994
For additional species annotation, visit the Alliance of Genome Resources.


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selective pituitary thyroid hormone resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by OMIM:145650
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Thyroid hormone resistance, selective pituitary
OMIM
ClinVar
PMID:1159077, PMID:1400873, PMID:8013151, PMID:8040303, PMID:8381821, PMID:8384535, PMID:8496318, PMID:8514853, PMID:8674808, PMID:8889584, PMID:8958790, PMID:10022392, PMID:11518118, PMID:16464943, PMID:16804041, PMID:21871106, PMID:22551329, PMID:24174637, PMID:25040256, PMID:26041374, PMID:26467025 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        thyroid gland disease 367
          hyperthyroidism 100
            selective pituitary thyroid hormone resistance 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                selective pituitary thyroid hormone resistance 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.